Variant report

Variant	rs57115181
Chromosome Location	chr2:110461990-110461991
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11682853	1.00[EUR][1000 genomes]
rs2060407	0.94[EUR][1000 genomes]
rs34837810	1.00[EUR][1000 genomes]
rs35379940	1.00[ASN][1000 genomes]
rs6758747	0.94[EUR][1000 genomes]
rs73956135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1009367	chr2:110349178-110863354	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2762780	chr2:110367969-110462496	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv491837	chr2:110381297-110964737	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv999552	chr2:110396395-110978224	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv428061	chr2:110423940-110714002	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv2751812	chr2:110457214-110980346	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv1011653	chr2:110461521-110978224	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110456600-110462000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:110458600-110462400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:110458800-110463200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:110458800-110468400	Weak transcription	Right Atrium	heart
5	chr2:110460000-110462000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:110460200-110463000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:110460200-110463000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:110460200-110464000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:110460200-110468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:110460200-110469200	Weak transcription	Lung	lung
11	chr2:110460400-110462000	Enhancers	HMEC	breast
12	chr2:110460400-110467000	Weak transcription	Stomach Mucosa	stomach
13	chr2:110460600-110465000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:110461000-110467000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:110461000-110474200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:110461200-110462000	Enhancers	HepG2	liver
17	chr2:110461200-110467000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:110461400-110462000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:110461400-110462000	Enhancers	Esophagus	oesophagus
20	chr2:110461400-110464600	Weak transcription	Fetal Lung	lung
21	chr2:110461800-110462000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:110461800-110462000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:110461800-110462000	Enhancers	Hela-S3	cervix
24	chr2:110461800-110463000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:110461800-110463000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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